Variant report

Variant	rs6715658
Chromosome Location	chr2:144963163-144963164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144961397..144965444-chr2:144966089..144968979,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1012272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10191725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151646	0.85[EUR][1000 genomes]
rs12620547	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap]
rs12622422	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13383062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823569	0.85[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60152197	0.85[EUR][1000 genomes]
rs62167058	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62167059	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169169	0.83[EUR][1000 genomes]
rs62169170	0.81[EUR][1000 genomes]
rs6708537	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758720	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144928200-144965400	Weak transcription	Left Ventricle	heart
2	chr2:144931400-144973800	Weak transcription	Ovary	ovary
3	chr2:144932000-144965000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:144941600-144964000	Weak transcription	Adipose Nuclei	Adipose
5	chr2:144941600-144965200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:144941800-144964800	Weak transcription	Primary B cells from cord blood	blood
7	chr2:144942000-144965600	Weak transcription	Primary T cells from cord blood	blood
8	chr2:144948800-144973600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:144952200-144968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:144952200-144973400	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:144952800-144971200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:144953000-144964800	Weak transcription	Fetal Lung	lung
13	chr2:144953600-144971400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:144954200-144964800	Weak transcription	Fetal Stomach	stomach
15	chr2:144955800-144964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:144955800-144969800	Weak transcription	Placenta	Placenta
17	chr2:144955800-144969800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:144955800-144973400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:144955800-144981200	Weak transcription	Fetal Intestine Large	intestine
20	chr2:144956200-144964200	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:144956200-144966600	Weak transcription	HSMM	muscle
22	chr2:144956200-144971400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:144956200-144973400	Weak transcription	Small Intestine	intestine
24	chr2:144956200-144973400	Weak transcription	K562	blood
25	chr2:144956200-144976000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:144956200-144985200	Weak transcription	Fetal Intestine Small	intestine
27	chr2:144956800-144964200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:144956800-144967800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:144959000-144973600	Weak transcription	Brain Substantia Nigra	brain
30	chr2:144959200-144964800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:144959800-144964800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:144959800-144965000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:144959800-144965600	Weak transcription	Brain Angular Gyrus	brain
34	chr2:144959800-144966000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:144959800-144968200	Weak transcription	Osteobl	bone
36	chr2:144959800-144968600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:144959800-144975800	Weak transcription	NHLF	lung
38	chr2:144959800-144977600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:144960000-144975600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:144960000-144975800	Weak transcription	NHDF-Ad	bronchial
41	chr2:144960800-144970800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:144961000-144973400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:144961200-144964800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:144961200-144967800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:144961200-144968000	Weak transcription	HSMMtube	muscle
46	chr2:144962600-144967400	Weak transcription	Brain Germinal Matrix	brain
47	chr2:144962600-144969400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:144962600-144998600	Weak transcription	Psoas Muscle	Psoas
49	chr2:144962800-144975600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:144963000-144964800	Weak transcription	Fetal Muscle Trunk	muscle

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